SNP Links for Gene (Select 2671) - SNP

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Select item 14905405681.

rs1490540568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1984768 (GRCh38)
16:2034769 (GRCh37)
Canonical SPDI:: NC_000016.10:1984767:G:A
Gene:: GFER (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1984768G>A, NC_000016.9:g.2034769G>A, NG_016288.1:g.5620G>A, NM_005262.3:c.280G>A, NM_005262.2:c.280G>A, NW_025791799.1:g.50916G>A, NP_005253.3:p.Asp94Asn

Select item 14902075412.

rs1490207541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1984516 (GRCh38)
16:2034517 (GRCh37)
Canonical SPDI:: NC_000016.10:1984515:C:T
Gene:: GFER (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.1984516C>T, NC_000016.9:g.2034517C>T, NG_016288.1:g.5368C>T, NW_025791799.1:g.50664C>T

Select item 14901112813.

rs1490111281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1985421 (GRCh38)
16:2035422 (GRCh37)
Canonical SPDI:: NC_000016.10:1985420:A:G
Gene:: GFER (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1985421A>G, NC_000016.9:g.2035422A>G, NG_016288.1:g.6273A>G, NW_025791799.1:g.51569A>G

Select item 14891805784.

rs1489180578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1984227 (GRCh38)
16:2034228 (GRCh37)
Canonical SPDI:: NC_000016.10:1984226:G:A
Gene:: GFER (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000025/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1984227G>A, NC_000016.9:g.2034228G>A, NG_016288.1:g.5079G>A, NM_005262.3:c.9G>A, NM_005262.2:c.9G>A, NW_025791799.1:g.50375G>A

Select item 14891547525.

rs1489154752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1983065 (GRCh38)
16:2033066 (GRCh37)
Canonical SPDI:: NC_000016.10:1983064:G:A
Gene:: GFER (Varview), TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1983065G>A, NC_000016.9:g.2033066G>A, NG_016288.1:g.3917G>A, NW_025791799.1:g.49213G>A

Select item 14889276776.

rs1488927677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1983517 (GRCh38)
16:2033518 (GRCh37)
Canonical SPDI:: NC_000016.10:1983516:C:A,NC_000016.10:1983516:C:T
Gene:: GFER (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1983517C>A, NC_000016.10:g.1983517C>T, NC_000016.9:g.2033518C>A, NC_000016.9:g.2033518C>T, NG_016288.1:g.4369C>A, NG_016288.1:g.4369C>T, NW_025791799.1:g.49665C>A, NW_025791799.1:g.49665C>T

Select item 14882193567.

rs1488219356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1982842 (GRCh38)
16:2032843 (GRCh37)
Canonical SPDI:: NC_000016.10:1982841:C:T
Gene:: GFER (Varview), TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1982842C>T, NC_000016.9:g.2032843C>T, NG_016288.1:g.3694C>T, NW_025791799.1:g.48990C>T, NM_006453.3:c.*4157C>T

Select item 14879623368.

rs1487962336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1986196 (GRCh38)
16:2036197 (GRCh37)
Canonical SPDI:: NC_000016.10:1986195:T:C
Gene:: GFER (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.1986196T>C, NC_000016.9:g.2036197T>C, NG_016288.1:g.7048T>C, NM_005262.3:c.*168T>C, NM_005262.2:c.*168T>C, NW_025791799.1:g.52344T>C

Select item 14865554909.

rs1486555490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:1986923 (GRCh38)
16:2036924 (GRCh37)
Canonical SPDI:: NC_000016.10:1986922:G:C
Gene:: GFER (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1986923G>C, NC_000016.9:g.2036924G>C, NG_016288.1:g.7775G>C, NM_005262.3:c.*895G>C, NM_005262.2:c.*895G>C, NW_025791799.1:g.53071G>C

Select item 148640956310.

rs1486409563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1987911 (GRCh38)
16:2037912 (GRCh37)
Canonical SPDI:: NC_000016.10:1987910:C:T
Gene:: GFER (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1987911C>T, NC_000016.9:g.2037912C>T, NG_016288.1:g.8763C>T, NW_025791799.1:g.54059C>T

Select item 148588543411.

rs1485885434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1984598 (GRCh38)
16:2034599 (GRCh37)
Canonical SPDI:: NC_000016.10:1984597:G:A
Gene:: GFER (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1984598G>A, NC_000016.9:g.2034599G>A, NG_016288.1:g.5450G>A, NW_025791799.1:g.50746G>A

Select item 148584694512.

rs1485846945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:1986808 (GRCh38)
16:2036809 (GRCh37)
Canonical SPDI:: NC_000016.10:1986807:T:G
Gene:: GFER (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.1986808T>G, NC_000016.9:g.2036809T>G, NG_016288.1:g.7660T>G, NM_005262.3:c.*780T>G, NM_005262.2:c.*780T>G, NW_025791799.1:g.52956T>G

Select item 148568686913.

rs1485686869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1983314 (GRCh38)
16:2033315 (GRCh37)
Canonical SPDI:: NC_000016.10:1983313:A:G
Gene:: GFER (Varview), TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.1983314A>G, NC_000016.9:g.2033315A>G, NG_016288.1:g.4166A>G, NW_025791799.1:g.49462A>G

Select item 148565741614.

rs1485657416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:1985136 (GRCh38)
16:2035137 (GRCh37)
Canonical SPDI:: NC_000016.10:1985135:G:C
Gene:: GFER (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1985136G>C, NC_000016.9:g.2035137G>C, NG_016288.1:g.5988G>C, NW_025791799.1:g.51284G>C

Select item 148555704915.

rs1485557049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:1983950 (GRCh38)
16:2033951 (GRCh37)
Canonical SPDI:: NC_000016.10:1983949:C:G
Gene:: GFER (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1983950C>G, NC_000016.9:g.2033951C>G, NG_016288.1:g.4802C>G, NW_025791799.1:g.50098C>G

Select item 148469770416.

rs1484697704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:1985430 (GRCh38)
16:2035431 (GRCh37)
Canonical SPDI:: NC_000016.10:1985429:G:T
Gene:: GFER (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1985430G>T, NC_000016.9:g.2035431G>T, NG_016288.1:g.6282G>T, NW_025791799.1:g.51578G>T

Select item 148443964717.

rs1484439647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:1982970 (GRCh38)
16:2032971 (GRCh37)
Canonical SPDI:: NC_000016.10:1982969:A:C
Gene:: GFER (Varview), TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1982970A>C, NC_000016.9:g.2032971A>C, NG_016288.1:g.3822A>C, NW_025791799.1:g.49118A>C

Select item 148415012718.

rs1484150127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1986612 (GRCh38)
16:2036613 (GRCh37)
Canonical SPDI:: NC_000016.10:1986611:A:G
Gene:: GFER (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1986612A>G, NC_000016.9:g.2036613A>G, NG_016288.1:g.7464A>G, NM_005262.3:c.*584A>G, NM_005262.2:c.*584A>G, NW_025791799.1:g.52760A>G

Select item 148317381419.

rs1483173814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:1987038 (GRCh38)
16:2037039 (GRCh37)
Canonical SPDI:: NC_000016.10:1987037:T:A,NC_000016.10:1987037:T:C,NC_000016.10:1987037:T:G
Gene:: GFER (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000597/10 (TOMMO)
G=0.005459/10 (Korea1K)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.1987038T>A, NC_000016.10:g.1987038T>C, NC_000016.10:g.1987038T>G, NC_000016.9:g.2037039T>A, NC_000016.9:g.2037039T>C, NC_000016.9:g.2037039T>G, NG_016288.1:g.7890T>A, NG_016288.1:g.7890T>C, NG_016288.1:g.7890T>G, NM_005262.3:c.*1010T>A, NM_005262.3:c.*1010T>C, NM_005262.3:c.*1010T>G, NM_005262.2:c.*1010T>A, NM_005262.2:c.*1010T>C, NM_005262.2:c.*1010T>G, NW_025791799.1:g.53186T>A, NW_025791799.1:g.53186T>C, NW_025791799.1:g.53186T>G

Select item 148267771320.

rs1482677713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1987620 (GRCh38)
16:2037621 (GRCh37)
Canonical SPDI:: NC_000016.10:1987619:G:A
Gene:: GFER (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.1987620G>A, NC_000016.9:g.2037621G>A, NG_016288.1:g.8472G>A, NM_005262.3:c.*1592G>A, NM_005262.2:c.*1592G>A, NW_025791799.1:g.53768G>A

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